Turner Syndrome (Turner's Syndrome)

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

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Networked: 1389 relevant articles (27 outcomes, 165 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Edema
2.	Aortic Coarctation
3.	Down Syndrome (Down's Syndrome)
4.	Klinefelter Syndrome (Klinefelter's Syndrome)
5.	Trisomy (Trisomies)

Experts

1.	Nicolaides, K H: 16 articles (06/2013 - 05/2000)
2.	Gravholt, Claus Højbjerg: 15 articles (07/2015 - 01/2002)
3.	Ross, Judith L: 15 articles (01/2015 - 06/2002)
4.	de Muinck Keizer-Schrama, Sabine M P F: 14 articles (10/2014 - 03/2003)
5.	Ranke, Michael B: 13 articles (06/2015 - 01/2004)
6.	Bondy, Carolyn A: 13 articles (01/2015 - 09/2003)
7.	Christiansen, Jens Sandahl: 11 articles (07/2015 - 06/2002)
8.	Quigley, Charmian A: 11 articles (01/2015 - 05/2002)
9.	Sas, Theo C J: 11 articles (10/2014 - 12/2002)
10.	Bakalov, Vladimir K: 11 articles (10/2012 - 09/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Turner Syndrome:

1.	Growth Hormone (Somatotropin)IBA 09/01/1999 - "The efficacy of long-term growth hormone treatment and the optimal treatment modalities in Turner's syndrome are still controversial. " 04/01/1996 - "Since growth hormone is effective in increasing the height of girls with Turner's syndrome, it is important to dispose of growth and bone maturation curves in a large number of untreated patients. " 11/01/2015 - "The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. " 11/01/2015 - "Turner syndrome in Albania and the efficacy of its treatment with growth hormone." 01/01/2011 - "Height can be improved permanently by growth hormone (GH) treatment, as in children with Turner syndrome or born small for gestational age. "
2.	Oxandrolone (Anavar)FDA LinkGeneric 01/01/2015 - "Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. " 01/01/2011 - "Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial." 03/01/2015 - "Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome." 10/01/2014 - "To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). " 10/01/2014 - "Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment."
3.	Human Growth Hormone (Saizen)FDA LinkGeneric 06/01/1996 - "The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. " 01/01/1993 - "Recombinant human growth hormone (GH) is effective in promoting growth velocity in subjects with Turner syndrome. " 01/01/1993 - "Safety and efficacy of human growth hormone treatment in girls with Turner syndrome." 07/01/2014 - "To study the effect of recombinant human growth hormone (rhGH) therapy on carbohydrate, lipid and protein metabolisms of Turner syndrome (TS). " 11/01/2012 - "This study analyzes the body anthropometric measurements in females with Turner syndrome (TS) not treated with recombinant human growth hormone. "
4.	Glucose (Dextrose)FDA LinkGeneric 07/01/2005 - "The oral glucose tolerance test is superior to the fasting and postprandial plasma glucose test for the early detection of abnormalities of carbohydrate metabolism in patients with Turner syndrome." 01/01/2015 - "The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). " 01/01/2014 - "Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. " 01/01/2011 - "To investigate glucose homeostasis in detail in Turner syndrome (TS), where impaired glucose tolerance (IGT) and type 2 diabetes are frequent. " 06/01/2006 - "Similarly, glucose levels on an empty stomach were significantly higher among women with Turner syndrome (P < 0.0001). "
5.	Estrogens (Estrogen)FDA Link 05/01/1979 - "Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. " 02/01/2012 - "We conducted this study to find the adequate initial estrogen dose for adolescent girls with Turner Syndrome (TS). " 01/01/2012 - "Our study aimed to assess uterine development in Turner syndrome patients and its relation to dose and type of estrogen therapy; and karyotype. " 11/01/2007 - "Our objective was to study the metabolic effects of oral vs. TD estrogen in GH-treated girls with Turner syndrome. " 11/01/2004 - "Turner Syndrome (TS) provides the opportunity to study the effect of the lack of estrogen on neurocognitive development. "
6.	somatrem (Protropin)FDA Link 06/01/1990 - "In conclusion, somatrem is an efficacious and safe therapy for short stature in Turner syndrome over a period of 2 years. " 01/01/1987 - "A total of 70 subjects with Turner's syndrome from 11 centres were enrolled in a study of somatrem. " 06/01/1990 - "Two-year results of treatment with methionyl human growth hormone in children with Turner syndrome. " 10/01/1988 - "Methionyl human growth hormone in Turner's syndrome." 01/01/1987 - "The response of 13 children with Turner's syndrome to somatrem, 2 IU/day, has been determined for a 4-week period of treatment using knemometric measurements, and compared to 6 months of treatment assessed by conventional auxology. "
7.	familial Nuchal blebIBA 06/01/1986 - "Fetal cystic hygroma and Turner's syndrome." 03/01/1986 - "Fetal cystic hygroma associated with Turner's syndrome." 05/01/1989 - "Spontaneous resolution of fetal cystic hygroma and hydrops in Turner syndrome." 01/01/1996 - "Multiple marker screening tests from 4 groups were compared: 1) Turner syndrome with hydrops/ hygroma group (n = 10) = fetuses with cystic hygroma/hydrops and a 45X karyotype, 2) Turner syndrome without hydrops/hygroma (n = 9) = sonographically unremarkable fetal Turner syndrome or Turner mosaic, 3) hydrops group (n = 8) = all cases of fetal cystic hygroma/hydrops excluding Turner syndrome, 4) sex chromosome aneuploidy group (n = 16) = other sonographically normal fetal sex chromosome aneuploidies. " 01/01/1983 - "Based on data from 5 cases of fetal cystic hygroma (4 cases of Turner's Syndrome and one case of Trisomy 18) and one case of Down's Syndrome with severe subcutaneous oedema, it is concluded that amniotic fluid alpha-fetoprotein (AFP) is normal or only slightly elevated in such cases whereas AFP in fluid from the cystic structures is very high. "
8.	Dehydroepiandrosterone (DHEA)IBA 01/01/1986 - "Dehydroepiandrosterone and its 16-hydroxylated derivatives were excreted in significantly greater amounts by the patients with Turner's syndrome as compared to normal girls. " 07/02/1982 - "Measurement of the urinary excretion of dehydroepiandrosterone and androsterone thus seems to be of prognostic value in the treatment of Turner's syndrome with androgens." 07/02/1982 - "Urinary excretion of steroid hormone metabolites pregnandiol, pregnantriol, aetiocholanolone, dehydroepiandrosterone and androsterone of 20 patients with Turner's syndrome was measured by gas chromatography. " 03/01/2001 - "Plasma levels of SHBG, estradiol, progesterone, testosterone and the adrenal steroids and their precursors, namely cortisol, 17alpha-hydroxyprogesterone, androstenedione, dehydroepiandrosterone and its sulfate were determined in 65 patients aged 2-23 years with Turner's syndrome. " 06/01/1999 - "Body composition measures, SHBG, testosterone (T), free testosterone (FT), dihydrotestosterone (DHT), alpha-4-androstendione (A), dehydroepiandrosterone sulphate (DHEAS), 17beta-oestradiol (E2), oestrone (E1), oestrone sulphate (ES), 24 h integrated GH concentration (ICGH), insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein (IGFBP-3) were determined at baseline and after six months in women with Turner syndrome, and at baseline in control women. "
9.	HormonesIBA 01/01/1993 - "Preliminary results are presented after 2 years of the Canadian long-term multicentre study on the impact of hormone therapy on the final height, sexual development and psychological status of girls with Turner syndrome. " 09/08/2015 - "Multiple pituitary hormone deficiency and Turner syndrome have overlapping features in peripubertal girls and is a diagnostic challenge. " 09/08/2015 - "Multiple Pituitary Hormone Deficiency, Empty Sella and Ectopic Neurohypophysis in Turner Syndrome." 03/01/2014 - "Hormone therapy may be indicated for an irregular menstrual cycle in Turner's syndrome patients." 09/01/2013 - "Turner syndrome (TS) is a genetic condition that permits direct investigation of the complex interaction among genes, hormones, behavior, and brain development. "
10.	Estradiol (Estrace)FDA LinkGeneric 02/01/2001 - "The present study was performed to compare the short-term effects in adult women with Turner syndrome of low-dose oral conjugated oestrogen (0.625 mg, CE) with relatively high dose ethinyl oestradiol (30 microg, EE2); both combined with an oral progestin. " 01/01/2000 - "To study the effects of long-term estradiol therapy on areal bone mineral density (aBMD) values in young adult Turner syndrome patients. " 11/01/2011 - "Pharmacokinetics and pharmacodynamics of oral and transdermal 17β estradiol in girls with Turner syndrome." 05/01/2005 - "Girls with Turner syndrome (TS) receive GH treatment during childhood, and in adolescence this treatment may be combined with oestradiol. " 01/01/2003 - "Based on growing evidence that estradiol is produced in small amounts even in the prepubertal ovary, we hypothesized that estradiol levels in girls with Turner's syndrome (TS) are lower than in normal prepubertal girls secondary to the lack of normally functioning ovaries. "

Therapies and Procedures

1.	Estrogen Replacement Therapy 10/01/2012 - "With early diagnosis, early high-dose treatment, and low-dose estrogen replacement therapy, both adult height and quality of life (QOL) of the patients with Turner syndrome have been improved." 11/28/2015 - "Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome." 01/11/2000 - "Estrogen replacement therapy in young girls with Turner Syndrome is associated with improved verbal and nonverbal memory. " 11/28/2015 - "Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. " 09/01/2014 - "Childhood low-dose estrogen replacement should be considered for girls with Turner syndrome."
2.	Stents 10/01/2005 - "As far as we know, this is the first description of implantation of a stent in the setting of coarctation in Turner's syndrome, albeit with an unfortunate conclusion." 10/01/2005 - "Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome." 11/01/2010 - "In conclusion, stent implantation for aortic coarctation in patients with Turner syndrome appears to be a safe and effective alternative to surgical repair. " 11/01/2010 - "We report our experience with stent implantation for treatment of aortic coarctation in patients with Turner syndrome. " 10/01/2005 - "We report a fatal dissection of the descending aorta as a complication after a two-staged implantation of a stent to relieve aortic coarctation in a young female with Turner's syndrome. "
3.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 11/01/1994 - "Our long-term study was conducted to evaluate the effect of hormone replacement therapy (HRT) on lipid metabolism in 16 POF and 10 Turner's syndrome women. " 01/01/2012 - "Uterine development in patients with Turner syndrome: relation to hormone replacement therapy and karyotype." 08/01/2009 - "Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome." 01/01/2009 - "Ambulatory arterial stiffness index in Turner syndrome: the impact of sex hormone replacement therapy." 05/01/2008 - "The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome."
4.	Injections 01/01/2011 - "The present follow-up study of young adults from a long-term controlled trial of GH treatment in patients with Turner syndrome (TS) yielded data to examine whether GH supplementation resulted in a higher HRQOL (either due to taller stature or from the knowledge that active treatment and not placebo had been received) or alternatively a lower HRQOL (due to medicalization from years of injections). " 08/01/1994 - "We conclude that division of the daily GH dose given to Turner's syndrome patients into two injections does not result in either a significantly different growth response or different side-effects from once daily treatment during the first year of therapy." 08/01/1994 - "In 44 girls with Turner's syndrome, aged 4.0-15.3 yr, the effects of biosynthetic GH (25 U/m2.week) given as once daily or twice daily injections were compared. " 12/01/1999 - "In study 1, 19 girls with Turner syndrome, aged 11 years or older, were treated with one or two daily injections of GH at a total dose of 6 IU/m2/day (0.067 mg/kg/day) and ethinyloestradiol given orally at a dose of 0.05 microg/kg/day. " 06/01/2000 - "Carbohydrate metabolism during growth hormone treatment and after discontinuation of growth hormone treatment in girls with Turner syndrome treated with once or twice daily growth hormone injections."
5.	Ovariectomy (Oophorectomy) 11/01/2014 - "Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment." 06/01/2006 - "Twenty women with POF: six had Turner syndrome (group A); eight had iatrogenic POF either secondary to bilateral oophorectomy or treatment of malignancy (group B); and six had idiopathic POF (group C). " 06/01/1998 - "They include Turner's syndrome, anorexia nervosa, ovarian dysfunction, oophorectomy, GnRH agonist therapy, and osteoporosis associated with pregnancy. " 03/01/2002 - "Testosterone deficiency in women may result from a variety of conditions, including oophorectomy, adrenalectomy, adrenal disease, pituitary disease, HIV infection, premature ovarian failure, Turner's syndrome, and the use of high-dose corticosteroids and some estrogen preparations. " 06/01/1998 - "Several studies have found osteoporosis to be a common complication of Turner's syndrome and hormone replacement therapy has been used as a possible management; in anorexic patient, low body weight, prolonged amenorrhea, early onset of anorexia nervosa, and hypercortisolism have been reported to be risks for bone demineralization; since oophorectomy which is a common intervention in gynecology leads osteoporosis, it is important to prevent osteoporosis caused by surgery as well as postmenopausal osteoporosis; GnRH agonist, which induces estrogen deficient state and affect bone mass, is commonly used as a management for endometriosis and leiomyoma of uterus; associated with pregnancy, post-pregnancy spinal osteoporosis and transient osteoporosis of the hip are clinically considered to be important and heparin therapy and magnesium sulfate therapy are commonly employed during pregnancy, affecting calcium homeostasis."